Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.37804004T= , CM000685.2:g.37804004T= | GRCh38 |
| NC_000023.10:g.37663257T= , CM000685.1:g.37663257T= | GRCh37 |
| NC_000023.9:g.37548201T= | NCBI36 |
| NG_009065.1:g.28988T= , LRG_53:g.28988T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696170.1:c.*534T= | ENSP00000512461.1:n.*534T= | |
| ENST00000696171.1:c.929T= | ENSP00000512462.1:p.Leu310= | |
| ENST00000378588.5:c.1025T= MANE Select | ENSP00000367851.4:p.Leu342= | |
| ENST00000378588.4:c.1025T= | ENSP00000367851.4:p.Leu342= | |
| ENST00000465127.1:c.171+378004T= | ENSP00000417050.1:n.171+378004T= | |
| ENST00000492288.1:n.450T= | ||
| NM_000397.3:c.1025T= , LRG_53t1:c.1025T= | NP_000388.2:p.Leu342= | |
| XM_011543890.1:c.719T= | XP_011542192.1:p.Leu240= | |
| NM_000397.4:c.1025T= MANE Select | NP_000388.2:p.Leu342= |